ClinVar Miner

List of variants studied for ciliopathy by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 360
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HGVS dbSNP gnomAD frequency
NM_001369.3(DNAH5):c.7388A>G (p.Gln2463Arg) rs10078391 0.20605
NM_181426.2(CCDC39):c.1528-43A>G rs73051767 0.13950
NM_001377.3(DYNC2H1):c.6420T>C (p.Asn2140=) rs11225584 0.10418
NM_001369.3(DNAH5):c.12658A>G (p.Thr4220Ala) rs2277046 0.09802
NM_001377.3(DYNC2H1):c.12457-6C>T rs11225812 0.07031
NM_178452.6(DNAAF1):c.1161C>G (p.Asp387Glu) rs36062234 0.05873
NM_001377.3(DYNC2H1):c.911A>T (p.Gln304Leu) rs12146610 0.04434
NM_001481.3(GAS8):c.-7T>G rs80287915 0.03946
NM_178452.6(DNAAF1):c.919C>G (p.Gln307Glu) rs111472069 0.03191
NM_001364171.2(ODAD1):c.247C>T (p.Arg83Trp) rs16981988 0.03160
NM_001277115.2(DNAH11):c.13547C>T (p.Ala4516Val) rs72658840 0.02832
NM_001377.3(DYNC2H1):c.9353+7G>A rs78309870 0.02821
NM_017950.4(CCDC40):c.504G>A (p.Pro168=) rs74000351 0.02786
NM_178452.6(DNAAF1):c.1303G>A (p.Asp435Asn) rs149158199 0.02715
NM_033124.5(CCDC65):c.1415G>A (p.Arg472His) rs80052257 0.02693
NM_145045.5(ODAD3):c.921C>T (p.Arg307=) rs61739937 0.02630
NM_001369.3(DNAH5):c.12708T>C (p.Gly4236=) rs61744054 0.02551
NM_001369.3(DNAH5):c.9522G>A (p.Thr3174=) rs35233147 0.02485
NM_001369.3(DNAH5):c.58-13T>C rs115758625 0.02407
NM_020800.3(IFT80):c.462G>A (p.Ala154=) rs34182424 0.02371
NM_001377.3(DYNC2H1):c.4728C>G (p.Asn1576Lys) rs72989738 0.02353
NM_001364171.2(ODAD1):c.598-5C>A rs10416590 0.02325
NM_001369.3(DNAH5):c.7274G>A (p.Arg2425His) rs35900306 0.02307
NM_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn) rs11896293 0.02293
NM_031924.8(RSPH3):c.35C>T (p.Ala12Val) rs61750777 0.02290
NM_001377.3(DYNC2H1):c.1367G>A (p.Arg456Gln) rs17099969 0.02244
NM_003114.5(SPAG1):c.1536-9C>G rs112884253 0.02211
NM_001277115.2(DNAH11):c.421G>T (p.Asp141Tyr) rs72655969 0.02191
NM_001369.3(DNAH5):c.4431C>T (p.Ser1477=) rs74451896 0.02161
NM_018076.5(ODAD2):c.1272C>T (p.Ser424=) rs111982349 0.02074
NM_145045.5(ODAD3):c.614C>T (p.Thr205Ile) rs35061520 0.02018
NM_001289104.2(PRKCSH):c.-78+38T>C rs160913 0.01869
NM_017950.4(CCDC40):c.2255T>C (p.Leu752Pro) rs117203086 0.01848
NM_031924.8(RSPH3):c.1024G>A (p.Glu342Lys) rs12204826 0.01824
NM_031924.8(RSPH3):c.767G>A (p.Arg256Gln) rs10455840 0.01819
NM_017950.4(CCDC40):c.2604C>T (p.Phe868=) rs61749027 0.01818
NM_001377.3(DYNC2H1):c.4068C>T (p.Phe1356=) rs74713170 0.01817
NM_001377.3(DYNC2H1):c.2818+13T>C rs150786504 0.01790
NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg) rs115517108 0.01785
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu) rs34071195 0.01772
NM_001378454.1(ALMS1):c.5169A>G (p.Gln1723=) rs75434052 0.01769
NM_152732.5(RSPH9):c.671-4259C>T rs41281830 0.01763
NM_001378454.1(ALMS1):c.10335C>T (p.Pro3445=) rs78108069 0.01749
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His) rs11889925 0.01714
NM_001364171.2(ODAD1):c.1071G>A (p.Glu357=) rs79967289 0.01703
NM_017950.4(CCDC40):c.946G>A (p.Ala316Thr) rs61998241 0.01690
NM_001377.3(DYNC2H1):c.645A>G (p.Leu215=) rs116666272 0.01688
NM_001364171.2(ODAD1):c.1632C>T (p.Ala544=) rs73585332 0.01673
NM_001369.3(DNAH5):c.2683G>A (p.Glu895Lys) rs76229167 0.01663
NM_001364171.2(ODAD1):c.1737C>T (p.Pro579=) rs13346323 0.01656
NM_001378454.1(ALMS1):c.1871A>G (p.His624Arg) rs41291187 0.01638
NM_001277115.2(DNAH11):c.6835-19A>G rs77931784 0.01620
NM_031924.8(RSPH3):c.303A>G (p.Thr101=) rs34756688 0.01596
NM_001010892.3(RSPH4A):c.731G>A (p.Arg244His) rs41289942 0.01592
NM_031924.8(RSPH3):c.-220C>A rs41267757 0.01586
NM_001377.3(DYNC2H1):c.3660T>C (p.Pro1220=) rs118191062 0.01583
NM_001377.3(DYNC2H1):c.10461A>G (p.Gln3487=) rs75143468 0.01568
NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp) rs45608038 0.01548
NM_001377.3(DYNC2H1):c.7122G>A (p.Leu2374=) rs116574613 0.01532
NM_017950.4(CCDC40):c.1449C>T (p.Thr483=) rs116824266 0.01523
NM_001369.3(DNAH5):c.3301G>A (p.Val1101Met) rs61747516 0.01505
NM_001369.3(DNAH5):c.3241A>G (p.Met1081Val) rs16902880 0.01472
NM_001369.3(DNAH5):c.3016A>G (p.Ser1006Gly) rs16902886 0.01470
NM_001277115.2(DNAH11):c.8969G>A (p.Arg2990His) rs72657371 0.01466
NM_001277115.2(DNAH11):c.9018G>A (p.Thr3006=) rs72657372 0.01452
NM_178452.6(DNAAF1):c.352+17G>C rs142704524 0.01446
NM_001377.3(DYNC2H1):c.1233A>G (p.Gln411=) rs116888435 0.01403
NM_017802.4(DNAAF5):c.921C>A (p.Ser307Arg) rs113374052 0.01381
NM_001277115.2(DNAH11):c.6547-5C>G rs115200161 0.01380
NM_001377.3(DYNC2H1):c.10479C>G (p.Leu3493=) rs151056947 0.01339
NM_001277115.2(DNAH11):c.6683+13C>G rs17145077 0.01337
NM_001277115.2(DNAH11):c.9337-9T>C rs72657378 0.01332
NM_001369.3(DNAH5):c.5658C>T (p.Tyr1886=) rs6880264 0.01314
NM_001378454.1(ALMS1):c.1899A>G (p.Gln633=) rs116033693 0.01292
NM_001277115.2(DNAH11):c.8317-16C>G rs76300792 0.01285
NM_001277115.2(DNAH11):c.9102+8G>A rs72657374 0.01255
NM_023036.6(DNAI2):c.1131G>A (p.Pro377=) rs59499600 0.01236
NM_001277115.2(DNAH11):c.11059A>G (p.Lys3687Glu) rs72657402 0.01226
NM_001377.3(DYNC2H1):c.195+7T>C rs112718117 0.01205
NM_145045.5(ODAD3):c.424C>G (p.Leu142Val) rs61739927 0.01197
NM_178452.6(DNAAF1):c.780G>C (p.Gln260His) rs112051327 0.01197
NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys) rs61898615 0.01194
NM_145045.5(ODAD3):c.729C>T (p.Asn243=) rs11879596 0.01155
NM_001377.3(DYNC2H1):c.12865G>C (p.Gly4289Arg) rs144717489 0.01113
NM_001377.3(DYNC2H1):c.6478-6C>T rs114254215 0.01103
NM_178452.6(DNAAF1):c.1769C>T (p.Thr590Met) rs34777958 0.01090
NM_001378454.1(ALMS1):c.6553C>T (p.Pro2185Ser) rs77555300 0.01077
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn) rs78039319 0.01071
NM_001369.3(DNAH5):c.3987A>G (p.Lys1329=) rs146191243 0.01011
NM_017950.4(CCDC40):c.2784C>T (p.Ile928=) rs118143944 0.00983
NM_017950.4(CCDC40):c.2682G>A (p.Ala894=) rs4889815 0.00968
NM_001364171.2(ODAD1):c.1636G>A (p.Ala546Thr) rs114111020 0.00957
NM_001369.3(DNAH5):c.12280-17T>C rs10214399 0.00956
NM_017950.4(CCDC40):c.1123A>C (p.Lys375Gln) rs61734951 0.00943
NM_001277115.2(DNAH11):c.10739G>A (p.Arg3580His) rs34879202 0.00942
NM_001369.3(DNAH5):c.5484+17T>C rs16902828 0.00937
NM_001364171.2(ODAD1):c.2027G>A (p.Ser676Asn) rs74351635 0.00931
NM_145045.5(ODAD3):c.1501G>A (p.Gly501Ser) rs77133587 0.00924
NM_001378454.1(ALMS1):c.5463G>A (p.Pro1821=) rs62151609 0.00915
NM_001369.3(DNAH5):c.4836G>A (p.Val1612=) rs34671383 0.00895
NM_001377.3(DYNC2H1):c.4968+18G>A rs144263658 0.00894
NM_001256715.2(DNAAF3):c.1405G>A (p.Val469Met) rs114601492 0.00882
NM_001256715.2(DNAAF3):c.-5+5G>T rs114393069 0.00871
NM_001364171.2(ODAD1):c.1672G>A (p.Ala558Thr) rs115124604 0.00870
NM_001256715.2(DNAAF3):c.6C>T (p.Thr2=) rs150362958 0.00844
NM_001378454.1(ALMS1):c.2661A>G (p.Val887=) rs76266696 0.00818
NM_001378454.1(ALMS1):c.8835C>G (p.Asn2945Lys) rs35062203 0.00814
NM_001369.3(DNAH5):c.5224T>C (p.Leu1742=) rs35963491 0.00809
NM_001369.3(DNAH5):c.6579+6A>G rs141389162 0.00798
NM_012144.4(DNAI1):c.1401+17G>A rs138412741 0.00773
NM_017950.4(CCDC40):c.2608C>T (p.Arg870Cys) rs61749025 0.00769
NM_001377.3(DYNC2H1):c.1485+19G>A rs111375449 0.00764
NM_003114.5(SPAG1):c.1586T>C (p.Met529Thr) rs78436093 0.00763
NM_020800.3(IFT80):c.1076C>T (p.Ser359Phe) rs144099135 0.00760
NM_145045.5(ODAD3):c.173T>C (p.Phe58Ser) rs61741137 0.00754
NM_001364171.2(ODAD1):c.1214G>A (p.Arg405Gln) rs73585360 0.00719
NM_080860.4(RSPH1):c.650T>G (p.Leu217Trp) rs138007679 0.00716
NM_001377.3(DYNC2H1):c.12254G>A (p.Arg4085His) rs115480556 0.00689
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594 0.00688
NM_018076.5(ODAD2):c.717G>A (p.Pro239=) rs150780082 0.00675
NM_001377.3(DYNC2H1):c.10864C>A (p.Arg3622=) rs117178504 0.00672
NM_018076.5(ODAD2):c.1743+11G>A rs74127161 0.00653
NM_017950.4(CCDC40):c.1303G>A (p.Glu435Lys) rs62000409 0.00649
NM_178452.6(DNAAF1):c.2134C>G (p.Pro712Ala) rs4150187 0.00649
NM_178452.6(DNAAF1):c.736G>A (p.Asp246Asn) rs151099638 0.00642
NM_001377.3(DYNC2H1):c.7198A>G (p.Ile2400Val) rs114292876 0.00632
NM_001377.3(DYNC2H1):c.10834G>C (p.Asp3612His) rs116872934 0.00628
NM_001277115.2(DNAH11):c.4598T>G (p.Ile1533Ser) rs73682656 0.00615
NM_001377.3(DYNC2H1):c.12007G>A (p.Ala4003Thr) rs61737514 0.00612
NM_012144.4(DNAI1):c.179C>T (p.Ala60Val) rs16931549 0.00609
NM_001277115.2(DNAH11):c.1426-9T>C rs72655983 0.00607
NM_001377.3(DYNC2H1):c.11703C>T (p.Asn3901=) rs144624858 0.00606
NM_018076.5(ODAD2):c.612T>A (p.Asp204Glu) rs61729354 0.00602
NM_001377.3(DYNC2H1):c.10966A>G (p.Met3656Val) rs151156076 0.00599
NM_001364171.2(ODAD1):c.1275C>T (p.Asp425=) rs35930441 0.00595
NM_001377.3(DYNC2H1):c.27G>T (p.Arg9=) rs113537035 0.00594
NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro) rs28730852 0.00579
NM_001377.3(DYNC2H1):c.11238C>T (p.Ser3746=) rs78599571 0.00555
NM_001369.3(DNAH5):c.5115-4G>T rs141141086 0.00551
NM_015896.4(ZMYND10):c.1073A>G (p.Gln358Arg) rs114329675 0.00540
NM_017950.4(CCDC40):c.1441-18C>G rs181295177 0.00530
NM_023036.6(DNAI2):c.1462C>T (p.Leu488Phe) rs61736879 0.00529
NM_001277115.2(DNAH11):c.693-9T>C rs72655973 0.00515
NM_001378454.1(ALMS1):c.6752A>G (p.Asp2251Gly) rs28730855 0.00515
NM_020800.3(IFT80):c.2139T>C (p.Asp713=) rs16831157 0.00485
NM_001377.3(DYNC2H1):c.3097-4A>G rs368802969 0.00476
NM_001377.3(DYNC2H1):c.5442C>T (p.Pro1814=) rs76833922 0.00476
NM_018139.3(DNAAF2):c.1494G>A (p.Ser498=) rs2985688 0.00470
NM_001277115.2(DNAH11):c.4501-7A>T rs62447794 0.00461
NM_001377.3(DYNC2H1):c.6477+14A>T rs111970770 0.00460
NM_001277115.2(DNAH11):c.9435G>A (p.Thr3145=) rs72657379 0.00449
NM_001377.3(DYNC2H1):c.7319C>T (p.Thr2440Met) rs146569005 0.00441
NM_031427.4(DNAL1):c.153-12G>C rs201880561 0.00436
NM_001277115.2(DNAH11):c.9097A>G (p.Ile3033Val) rs72657373 0.00428
NM_001277115.2(DNAH11):c.6041+18T>C rs72657336 0.00425
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser) rs61741524 0.00422
NM_020800.3(IFT80):c.371-10C>A rs188321058 0.00420
NM_023036.6(DNAI2):c.949G>A (p.Ala317Thr) rs145798624 0.00383
NM_001364171.2(ODAD1):c.185G>A (p.Arg62His) rs7248372 0.00372
NM_017950.4(CCDC40):c.3424T>C (p.Ser1142Pro) rs148900528 0.00366
NM_001377.3(DYNC2H1):c.1263C>A (p.Phe421Leu) rs142881106 0.00365
NM_017950.4(CCDC40):c.3349G>A (p.Glu1117Lys) rs145595957 0.00365
NM_001277115.2(DNAH11):c.5185C>T (p.Pro1729Ser) rs144106494 0.00357
NM_001377.3(DYNC2H1):c.3012T>C (p.Gly1004=) rs202082545 0.00344
NM_018076.5(ODAD2):c.2610+11A>G rs111710872 0.00343
NM_181426.2(CCDC39):c.930+12C>G rs1401333 0.00338
NM_181426.2(CCDC39):c.1073C>T (p.Thr358Ile) rs183413880 0.00334
NM_001277115.2(DNAH11):c.12521T>G (p.Leu4174Arg) rs144474011 0.00330
NM_145045.5(ODAD3):c.254G>A (p.Arg85Gln) rs143192349 0.00328
NM_001377.3(DYNC2H1):c.8881G>A (p.Ala2961Thr) rs199568537 0.00317
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg) rs115545935 0.00314
NM_017950.4(CCDC40):c.3408C>T (p.Leu1136=) rs186591691 0.00309
NM_001277115.2(DNAH11):c.9935A>T (p.Asp3312Val) rs72657389 0.00307
NM_001277115.2(DNAH11):c.10391C>T (p.Thr3464Ile) rs141112088 0.00305
NM_001277115.2(DNAH11):c.8798-5G>A rs189821372 0.00292
NM_003114.5(SPAG1):c.1414A>G (p.Ile472Val) rs373038988 0.00288
NM_001369.3(DNAH5):c.10457T>C (p.Met3486Thr) rs141651941 0.00285
NM_001369.3(DNAH5):c.299G>C (p.Gly100Ala) rs144236383 0.00278
NM_145045.5(ODAD3):c.1203G>A (p.Arg401=) rs199934107 0.00277
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile) rs188807564 0.00267
NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr) rs202233363 0.00255
NM_003114.5(SPAG1):c.1226C>G (p.Thr409Ser) rs544372581 0.00250
NM_017950.4(CCDC40):c.334A>G (p.Thr112Ala) rs201709592 0.00245
NM_001277115.2(DNAH11):c.11233G>A (p.Glu3745Lys) rs182389910 0.00242
NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr) rs138161346 0.00241
NM_001277115.2(DNAH11):c.4430T>C (p.Val1477Ala) rs72657320 0.00229
NM_020800.3(IFT80):c.777+20A>G rs192387448 0.00217
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=) rs137932254 0.00215
NM_018076.5(ODAD2):c.2496-12G>T rs182886953 0.00195
NM_031427.4(DNAL1):c.415C>G (p.Leu139Val) rs141873943 0.00191
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840 0.00189
NM_001377.3(DYNC2H1):c.1953+14T>C rs186540831 0.00180
NM_012144.4(DNAI1):c.81+5del rs200411544 0.00175
NM_001377.3(DYNC2H1):c.6478-17C>T rs61899765 0.00172
NM_145045.5(ODAD3):c.398G>A (p.Arg133His) rs112493796 0.00172
NM_001377.3(DYNC2H1):c.1661+16T>C rs187129481 0.00164
NM_023036.6(DNAI2):c.1660G>A (p.Asp554Asn) rs117932646 0.00161
NM_181426.2(CCDC39):c.272A>G (p.Gln91Arg) rs201157338 0.00159
NM_020800.3(IFT80):c.897G>A (p.Val299=) rs145776235 0.00156
NM_001277115.2(DNAH11):c.6970C>G (p.Leu2324Val) rs201323940 0.00150
NM_033124.5(CCDC65):c.1180-8A>C rs192209412 0.00144
NM_003114.5(SPAG1):c.825C>T (p.Asn275=) rs150007121 0.00141
NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val) rs200466720 0.00140
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp) rs148720124 0.00139
NM_017802.4(DNAAF5):c.1931+8C>T rs145254596 0.00135
NM_001277115.2(DNAH11):c.2486G>A (p.Arg829His) rs201261243 0.00129
NM_001377.3(DYNC2H1):c.8481A>C (p.Thr2827=) rs370627443 0.00129
NM_033124.5(CCDC65):c.203T>C (p.Val68Ala) rs118060953 0.00129
NM_001190787.3(MCIDAS):c.821G>A (p.Gly274Glu) rs181843638 0.00127
NM_001277115.2(DNAH11):c.6181-12T>C rs201203384 0.00122
NM_001377.3(DYNC2H1):c.10048C>T (p.Arg3350Cys) rs149452352 0.00121
NM_001378454.1(ALMS1):c.945T>C (p.Ser315=) rs183390773 0.00119
NM_080860.4(RSPH1):c.727+19del rs144909525 0.00118
NM_001377.3(DYNC2H1):c.12566+17A>G rs187787132 0.00113
NM_001277115.2(DNAH11):c.12370T>G (p.Leu4124Val) rs151156028 0.00109
NM_001369.3(DNAH5):c.1644+12A>G rs201116549 0.00106
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val) rs137853026 0.00105
NM_016616.5(NME8):c.610A>G (p.Ile204Val) rs146777129 0.00094
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys) rs200190291 0.00090
NM_001277115.2(DNAH11):c.7811+4A>T rs374167556 0.00089
NM_001190787.3(MCIDAS):c.162G>T (p.Gly54=) rs190259474 0.00085
NM_178452.6(DNAAF1):c.1354C>A (p.Pro452Thr) rs145680314 0.00085
NM_001277115.2(DNAH11):c.470G>A (p.Gly157Glu) rs185011953 0.00081
NM_001377.3(DYNC2H1):c.10845G>A (p.Pro3615=) rs187451323 0.00081
NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile) rs150887098 0.00081
NM_001277115.2(DNAH11):c.13049+15C>T rs200860431 0.00080
NM_080860.4(RSPH1):c.877+7T>A rs116369489 0.00080
NM_001377.3(DYNC2H1):c.3170G>A (p.Arg1057His) rs191381310 0.00069
NM_001377.3(DYNC2H1):c.1135-11_1135-8del rs551487728 0.00064
NM_001377.3(DYNC2H1):c.476T>C (p.Leu159Ser) rs201510850 0.00064
NM_001377.3(DYNC2H1):c.7708+9A>G rs375081757 0.00063
NM_001378454.1(ALMS1):c.11223G>A (p.Glu3741=) rs28730859 0.00061
NM_017802.4(DNAAF5):c.640C>G (p.Gln214Glu) rs149980915 0.00061
NM_001277115.2(DNAH11):c.10740C>G (p.Arg3580=) rs114916492 0.00059
NM_001378454.1(ALMS1):c.11708G>A (p.Arg3903Gln) rs201673771 0.00058
NM_001377.3(DYNC2H1):c.7143A>G (p.Val2381=) rs79832792 0.00057
NM_001377.3(DYNC2H1):c.1288C>T (p.Arg430Cys) rs374073337 0.00053
NM_001377.3(DYNC2H1):c.33C>T (p.Leu11=) rs373977008 0.00051
NM_181426.2(CCDC39):c.1969G>A (p.Glu657Lys) rs200459402 0.00051
NM_001277115.2(DNAH11):c.6352G>A (p.Gly2118Ser) rs72657342 0.00048
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val) rs201819880 0.00048
NM_021147.5(CCNO):c.187T>C (p.Ser63Pro) rs377241996 0.00047
NM_001378454.1(ALMS1):c.11255A>G (p.Asn3752Ser) rs199917289 0.00045
NM_001377.3(DYNC2H1):c.12082G>T (p.Gly4028Cys) rs202216852 0.00044
NM_001377.3(DYNC2H1):c.7540+20A>G rs535988847 0.00043
NM_020800.3(IFT80):c.721G>C (p.Gly241Arg) rs138004478 0.00043
NM_001277115.2(DNAH11):c.8521A>G (p.Ser2841Gly) rs199789835 0.00042
NM_001377.3(DYNC2H1):c.3419G>T (p.Gly1140Val) rs201043335 0.00042
NM_018719.5(CDCA7L):c.*1333C>T rs114694338 0.00036
NM_145038.5(DRC1):c.2075C>G (p.Thr692Ser) rs201260214 0.00034
NM_001369.3(DNAH5):c.975+6C>T rs151000177 0.00029
NM_001377.3(DYNC2H1):c.5335-11T>G rs181963253 0.00029
NM_001377.3(DYNC2H1):c.5473A>G (p.Ile1825Val) rs201860217 0.00029
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_001377.3(DYNC2H1):c.2145A>G (p.Gln715=) rs373969189 0.00024
NM_020800.3(IFT80):c.1093A>G (p.Thr365Ala) rs140202230 0.00023
NM_001369.3(DNAH5):c.11320T>C (p.Ser3774Pro) rs766646786 0.00022
NM_001377.3(DYNC2H1):c.10043-7T>A rs376067770 0.00022
NM_001010892.3(RSPH4A):c.930C>T (p.Asn310=) rs180881714 0.00021
NM_001377.3(DYNC2H1):c.4719A>G (p.Gln1573=) rs201016942 0.00021
NM_020800.3(IFT80):c.2158C>A (p.Gln720Lys) rs201820395 0.00021
NM_020800.3(IFT80):c.933A>G (p.Thr311=) rs138798955 0.00020
NM_001377.3(DYNC2H1):c.2935C>T (p.Arg979Trp) rs772439717 0.00019
NM_001256715.2(DNAAF3):c.469C>T (p.Arg157Cys) rs369116839 0.00016
NM_001277115.2(DNAH11):c.6017C>T (p.Pro2006Leu) rs117803903 0.00016
NM_001378454.1(ALMS1):c.4149A>G (p.Gln1383=) rs370508895 0.00016
NM_017950.4(CCDC40):c.2227G>A (p.Glu743Lys) rs201166295 0.00016
NM_001010892.3(RSPH4A):c.1708G>C (p.Glu570Gln) rs147003118 0.00015
NM_001377.3(DYNC2H1):c.6307T>A (p.Ser2103Thr) rs201003494 0.00015
NM_020800.3(IFT80):c.758G>A (p.Arg253His) rs144738877 0.00015
NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter) rs181011657 0.00014
NM_001378454.1(ALMS1):c.9633G>A (p.Lys3211=) rs373013570 0.00014
NM_020800.3(IFT80):c.655G>A (p.Gly219Ser) rs201365447 0.00014
NM_001377.3(DYNC2H1):c.11726G>A (p.Gly3909Asp) rs201479015 0.00013
NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe) rs185504536 0.00013
NM_001369.3(DNAH5):c.3112G>A (p.Val1038Met) rs146828513 0.00011
NM_001377.3(DYNC2H1):c.9178A>C (p.Arg3060=) rs200515728 0.00011
NM_020800.3(IFT80):c.1678A>G (p.Asn560Asp) rs202145480 0.00011
NM_001010892.3(RSPH4A):c.1828C>T (p.Arg610Trp) rs149268378 0.00009
NM_001364171.2(ODAD1):c.1423G>A (p.Asp475Asn) rs199600077 0.00009
NM_001277115.2(DNAH11):c.11506G>A (p.Val3836Ile) rs767109418 0.00008
NM_018139.3(DNAAF2):c.1969C>T (p.Leu657Phe) rs187863107 0.00008
NM_001277115.2(DNAH11):c.6664C>G (p.Arg2222Gly) rs773498002 0.00006
NM_001369.3(DNAH5):c.10330C>T (p.Leu3444=) rs201881960 0.00006
NM_001369.3(DNAH5):c.8600T>A (p.Ile2867Asn) rs572852817 0.00006
NM_033124.5(CCDC65):c.1297C>T (p.Arg433Trp) rs138929942 0.00006
NM_145045.5(ODAD3):c.1435-5C>A rs371246808 0.00006
NM_001369.3(DNAH5):c.7475C>T (p.Ala2492Val) rs529080443 0.00004
NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp) rs1350329646 0.00004
NM_001377.3(DYNC2H1):c.8218A>G (p.Thr2740Ala) rs768871834 0.00004
NM_001377.3(DYNC2H1):c.9011G>A (p.Arg3004His) rs755871858 0.00004
NM_001377.3(DYNC2H1):c.11270A>G (p.Gln3757Arg) rs758727391 0.00003
NM_001377.3(DYNC2H1):c.6700A>T (p.Thr2234Ser) rs370888884 0.00003
NM_017802.4(DNAAF5):c.2024C>T (p.Thr675Met) rs757110526 0.00003
NM_001277115.2(DNAH11):c.495+18A>G rs779666043 0.00002
NM_001369.3(DNAH5):c.11455+7T>G rs774101738 0.00002
NM_001377.3(DYNC2H1):c.10998A>G (p.Ala3666=) rs758373368 0.00002
NM_001377.3(DYNC2H1):c.2719T>C (p.Cys907Arg) rs534081459 0.00002
NM_001377.3(DYNC2H1):c.4127+10A>G rs369188420 0.00002
NM_001378454.1(ALMS1):c.764+19A>G rs1035974697 0.00002
NM_018139.3(DNAAF2):c.404G>A (p.Ser135Asn) rs759580456 0.00002
NM_023036.6(DNAI2):c.1105G>A (p.Ala369Thr) rs1263482357 0.00002
NM_001277115.2(DNAH11):c.6817G>A (p.Val2273Ile) rs772793348 0.00001
NM_001377.3(DYNC2H1):c.12317T>C (p.Leu4106Ser) rs369591902 0.00001
NM_001377.3(DYNC2H1):c.1469G>A (p.Arg490His) rs201484896 0.00001
NM_001377.3(DYNC2H1):c.8361A>C (p.Ser2787=) rs768132660 0.00001
NM_001377.3(DYNC2H1):c.988C>T (p.Arg330Cys) rs397514637 0.00001
NM_020800.3(IFT80):c.440-12T>G rs748442129 0.00001
NM_001134831.2(AHI1):c.*1A>C
NM_001134831.2(AHI1):c.3109+6788A>C
NM_001190787.3(MCIDAS):c.120+2dup
NM_001190787.3(MCIDAS):c.121-19C>A rs181955833
NM_001256715.2(DNAAF3):c.1163+10G>T rs200324983
NM_001256715.2(DNAAF3):c.837G>A (p.Thr279=)
NM_001256715.2(DNAAF3):c.918C>T (p.Ala306=)
NM_001277115.2(DNAH11):c.100_101delinsTT (p.Glu34Leu) rs398123604
NM_001277115.2(DNAH11):c.13263G>C (p.Pro4421=) rs72658834
NM_001277115.2(DNAH11):c.1997C>A (p.Ala666Asp)
NM_001277115.2(DNAH11):c.6273+9A>G rs192777767
NM_001277115.2(DNAH11):c.7626G>T (p.Thr2542=) rs2072221
NM_001277115.2(DNAH11):c.9436G>C (p.Glu3146Gln)
NM_001369.3(DNAH5):c.11029G>T (p.Val3677Leu) rs2126690194
NM_001369.3(DNAH5):c.12033+7A>G rs77541151
NM_001369.3(DNAH5):c.12279C>T (p.Asn4093=)
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.3(DNAH5):c.3835-3del rs35398031
NM_001369.3(DNAH5):c.464C>T (p.Ala155Val)
NM_001369.3(DNAH5):c.7407+4A>C
NM_001377.3(DYNC2H1):c.10042+7_10042+10del rs1483149779
NM_001377.3(DYNC2H1):c.10606-14A>G rs989023092
NM_001377.3(DYNC2H1):c.12109T>G (p.Ser4037Ala)
NM_001377.3(DYNC2H1):c.2574+1G>A rs1565329461
NM_001377.3(DYNC2H1):c.5930T>C (p.Ile1977Thr) rs2134994345
NM_001377.3(DYNC2H1):c.5959A>G (p.Thr1987Ala) rs137853035
NM_001377.3(DYNC2H1):c.6271A>G (p.Asn2091Asp) rs1555057881
NM_001377.3(DYNC2H1):c.6558C>A (p.Asp2186Glu) rs199675558
NM_001377.3(DYNC2H1):c.7540+14G>A rs115273161
NM_001377.3(DYNC2H1):c.9050T>C (p.Leu3017Pro) rs2135150032
NM_001377.3(DYNC2H1):c.9425C>T (p.Ser3142Leu)
NM_001378454.1(ALMS1):c.36GGA[10] (p.Glu26_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.6302C>T (p.Ser2101Leu) rs28730854
NM_001378454.1(ALMS1):c.764+20T>G
NM_001481.3(GAS8):c.1146G>C (p.Glu382Asp)
NM_003114.5(SPAG1):c.2280+13_2280+16del
NM_012144.4(DNAI1):c.1019G>A (p.Trp340Ter)
NM_016616.5(NME8):c.1007G>A (p.Arg336His) rs62001869
NM_017802.4(DNAAF5):c.2082+8del rs878855035
NM_017950.4(CCDC40):c.1562+2003C>A
NM_018076.5(ODAD2):c.1592T>G (p.Ile531Ser) rs370164015
NM_018139.3(DNAAF2):c.1119C>T (p.Ser373=)
NM_018139.3(DNAAF2):c.1510C>T (p.Gln504Ter)
NM_020800.3(IFT80):c.1326C>G (p.Leu442=) rs886058131
NM_020800.3(IFT80):c.411dup (p.Met138fs) rs778324141
NM_031924.8(RSPH3):c.992A>C (p.His331Pro) rs78116655
NM_052844.4(DYNC2I2):c.296C>T (p.Pro99Leu) rs2132156076
NM_080860.4(RSPH1):c.727+15C>G rs202146973
NM_145038.5(DRC1):c.116G>C (p.Arg39Pro)
NM_145038.5(DRC1):c.765+15C>T
NM_145045.5(ODAD3):c.694C>T (p.Gln232Ter)

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